PrimePCR™ Probe Assay: PEX5, Human

RT

Real-time PCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0052157
Assay Design:   exonic
Chromosome Location:   12:7343518-7343950question
Amplicon Length:   101
Splice Variants Targeted:   ENST00000370602 ENST00000319080 ENST00000538698 ENST00000539039 ENST00000371714 ENST00000447887 ENST00000428468 ENST00000453295 ENST00000371710 ENST00000337809 ENST00000435686 ENST00000389301 ENST00000568369 ENST00000389302 ENST00000563673 ENST00000543736 ENST00000534992 ENST00000410062 ENST00000602710 ENST00000392415 ENST00000375001 ENST00000536883 ENST00000542539 ENST00000455147 ENST00000540398 ENST00000266563 ENST00000543974 ENST00000434354 ENST00000544456 ENST00000545574 ENST00000420616 ENST

Gene Information

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD) a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq Oct 2008]

Gene Symbol:   PEX5
Gene Name:   peroxisomal biogenesis factor 5
Aliases:   FLJ50634, FLJ50721, FLJ51948, PTS1-BP, PTS1R, PXR1
RefSeq:   NC_000012.11 NG_008448.1 NT_009714.17
Ensembl:   ENSG00000139197
Entrez:   5830
Chromosome Mapping:   12p13.31

The below validation information is for the Primer Pair only   Download Validation Data (.pdf)


Products used to generate validation data:

Real-Time PCR Instrument CFX384 Real-Time PCR Detection System
Reverse Transcription Reagent iScript™ Advanced cDNA Synthesis Kit for RT-qPCR
Real-Time PCR Supermix SsoAdvanced™ Universal SYBR® Green Supermix
Experimental Sample qPCR Human Reference Total RNA

Summary Data:

R2 0.999600
y-intercept 35.660000
Efficiency 98

Amplification Plot
Amplification of cDNA generated from universal RNA.

Amplification of cDNA generated from universal RNA.

Melt Peak
Melt curve analysis of above amplification.

Melt curve analysis of above amplification.

Standard Curve
Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

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